GELEOPHYSIC DYSPLASIA 1
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.
|
21415077 |
2011 |
GELEOPHYSIC DYSPLASIA 1
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.
|
18677313 |
2008 |
GELEOPHYSIC DYSPLASIA 1
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.
|
18677313 |
2008 |
GELEOPHYSIC DYSPLASIA 1
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Geleophysic dysplasia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking.
|
31516831 |
2019 |
Geleophysic dysplasia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mice lacking ADAMTSL2 die at birth, which has precluded analysis of postnatal limb development and mechanisms underlying the skeletal anomalies of geleophysic dysplasia.
|
30738849 |
2019 |
Geleophysic dysplasia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the a disintegrin and metalloproteinase with thrombospondin motif-like 2 ( ADAMTSL2) gene are responsible for the autosomal recessive form of geleophysic dysplasia, which is characterized by short stature, short extremities, and skeletal abnormalities.
|
30303737 |
2019 |
Geleophysic dysplasia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We describe the ocular phenotype of a girl with genetically confirmed recessive geleophysic dysplasia (biallelic ADAMTSL2 mutations).
|
30415012 |
2019 |
Geleophysic dysplasia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genetic testing of ADAMTSL2 revealed a previously reported missense mutation as well as a novel nonsense mutation, which can be added to the list of causative mutations in geleophysic dysplasia.
|
30195254 |
2018 |
Geleophysic dysplasia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We found that tip-toeing gait, long flat philtrum and thin upper upper lip were more consistently found in GD patients with ADAMTSL2 mutations than in those with FBN1 mutations.
|
29191498 |
2018 |
Geleophysic dysplasia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We discuss these findings in relation to the human disorder geleophysic dysplasia (GD), which also arises from recessive ADAMTSL2 mutations, and recent findings in Adamtsl2-deficient mice.
|
28158899 |
2017 |
Geleophysic dysplasia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, we have identified a novel splicing mutation of ADAMTSL2 carried by a Chinese boy with geleophysic dysplasia type 1.
|
28917829 |
2017 |
Geleophysic dysplasia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in several genes have been identified for these disorders (including latent transforming growth factor β (TGF-β)-binding protein-2 (LTBP2), ADAMTS10, ADAMSTS17 and fibrillin-1 (FBN1) for Weill-Marchesani syndrome, ADAMTSL2 for recessive GD and FBN1 for AD and dominant GD), encoding proteins involved in the microfibrillar network.
|
27068007 |
2016 |
Geleophysic dysplasia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here, we present the clinical and histopathologic findings in a child with GD with newly identified ADAMTSL2 mutations.
|
24251637 |
2014 |
Geleophysic dysplasia
|
0.500 |
Biomarker
|
disease |
BEFREE |
The genes ADAMTSL2 (a disintegrin-like and metalloprotease with thrombospondin type 1 motif-like 2) and FBN1 (fibrillin 1) were recently identified as causative genes for GD.
|
23124041 |
2013 |
Geleophysic dysplasia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Small numbers of mutations in ADAMTSL2 have been reported so far in patients with GD type 1 (GD1).
|
24014090 |
2013 |
Geleophysic dysplasia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in FBN1, ADAMTS10, or ADAMTS17 cause Weill-Marchesani syndrome by disrupting the microfibrillar environment, while geleophysic dysplasia is associated with enhanced TGF-β signaling mediated through mutations in FBN1 or ADAMTSL2.
|
24214363 |
2013 |
Geleophysic dysplasia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.
|
21415077 |
2011 |
Geleophysic dysplasia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Intriguingly, mutations in ADAMTS [a disintegrin-like and metalloprotease (reprolysin-type) with thrombospondin type 1 motif] family members phenocopy these disorders, leading to recessive WMS (ADAMTS10), WMS-like syndrome (ADAMTS17), IEL (ADAMTSL4 and ADAMTS17) and GD (ADAMTSL2).
|
21858451 |
2011 |
Geleophysic dysplasia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Sequence analysis of a candidate gene at this locus, ADAMTSL2, which is responsible for the human TGFβ dysregulation syndrome, Geleophysic Dysplasia (GD), uncovered a mutation in exon 7 (c.660C>T; p.R221C) perfectly associated with MLS (p-value=10(-12)).
|
20862248 |
2010 |
Geleophysic dysplasia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
More recently, we have identified ADAMTSL2 mutations in GD.
|
19396027 |
2009 |
Geleophysic dysplasia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These data suggest that ADAMTSL2 mutations may lead to a dysregulation of TGF-beta signaling and may be the underlying mechanism of geleophysic dysplasia.
|
18677313 |
2008 |
Geleophysic dysplasia
|
0.500 |
Biomarker
|
disease |
CTD_human |
These data suggest that ADAMTSL2 mutations may lead to a dysregulation of TGF-beta signaling and may be the underlying mechanism of geleophysic dysplasia.
|
18677313 |
2008 |
Geleophysic dysplasia
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Hepatomegaly
|
0.400 |
Biomarker
|
phenotype |
CTD_human |
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.
|
18677313 |
2008 |